Department of Cellular and Molecular Physiology, Milton S. Hershey Medical Center, Pennsylvania State University College of Medicine, Hershey, PA 17033, USA.
Cell Mol Life Sci. 2010 Jan;67(1):113-21. doi: 10.1007/s00018-009-0165-5. Epub 2009 Oct 27.
Spermine is present in many organisms including animals, plants, some fungi, some archaea, and some bacteria. It is synthesized by spermine synthase, a highly specific aminopropyltransferase. This review describes spermine synthase structure, genetics, and function. Structural and biochemical studies reveal that human spermine synthase is an obligate dimer. Each monomer contains a C-terminal domain where the active site is located, a central linking domain that also forms the lid of the catalytic domain, and an N-terminal domain that is structurally very similar to S-adenosylmethionine decarboxylase. Gyro mice, which have an X-chromosomal deletion including the spermine synthase (SMS) gene, lack all spermine and have a greatly reduced size, sterility, deafness, neurological abnormalities, and a tendency to sudden death. Mutations in the human SMS lead to a rise in spermidine and reduction of spermine causing Snyder-Robinson syndrome, an X-linked recessive condition characterized by mental retardation, skeletal defects, hypotonia, and movement disorders.
精胺存在于许多生物中，包括动物、植物、一些真菌、一些古菌和一些细菌。它是由精胺合酶合成的，这是一种高度特异性的氨丙基转移酶。本文综述了精胺合酶的结构、遗传学和功能。结构和生化研究表明，人精胺合酶是一种必需的二聚体。每个单体包含一个位于活性位点的 C 端结构域、一个连接中央结构域，该结构域也形成催化结构域的盖子，以及一个与 S-腺苷甲硫氨酸脱羧酶结构非常相似的 N 端结构域。Gyro 小鼠，其 X 染色体缺失包括精胺合酶（SMS）基因，缺乏所有的精胺并且体型明显减小、不育、耳聋、神经异常和突然死亡的倾向。人类 SMS 中的突变导致精脒增加和精胺减少，引起 Snyder-Robinson 综合征，这是一种 X 连锁隐性疾病，其特征是智力迟钝、骨骼缺陷、张力减退和运动障碍。
